P2RY12, purinergic receptor P2Y12, 64805

N. diseases: 153; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917885
rs121917885 		1.000 0.080 3 151338079 missense variant C/T snv 4.0E-05
CUI: C1853278
Disease: Bleeding Disorder Due To P2RY12 Defect
Bleeding Disorder Due To P2RY12 Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 3 2001 2015
dbSNP: rs121917886
rs121917886 		1.000 0.080 3 151338053 missense variant G/A;C snv 1.2E-05
CUI: C1853278
Disease: Bleeding Disorder Due To P2RY12 Defect
Bleeding Disorder Due To P2RY12 Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 3 2001 2015
dbSNP: rs1352887
rs1352887 		3 151355567 intron variant C/A;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs755459581
rs755459581 		1.000 0.080 3 151338052 missense variant C/G;T snv 1.2E-05; 1.2E-05
CUI: C4025282
Disease: Impaired ADP-induced platelet aggregation
Impaired ADP-induced platelet aggregation 		0.700 1.000 1 2019 2019
dbSNP: rs9856118
rs9856118 		3 151360428 intron variant A/G snv 0.12 0.11
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1560045738
rs1560045738 		1.000 0.080 3 151338128 frameshift variant TG/- del
CUI: C1853278
Disease: Bleeding Disorder Due To P2RY12 Defect
Bleeding Disorder Due To P2RY12 Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1560103306
rs1560103306 		3 151380116 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1560108090
rs1560108090 		3 151384082 splice acceptor variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs755459581
rs755459581 		1.000 0.080 3 151338052 missense variant C/G;T snv 1.2E-05; 1.2E-05
CUI: C1853278
Disease: Bleeding Disorder Due To P2RY12 Defect
Bleeding Disorder Due To P2RY12 Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs10935840
rs10935840 		3 151383295 intron variant A/G snv 0.31
CUI: C0596240
Disease: Cancer Pain
Cancer Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs16863323
rs16863323 		1.000 0.080 3 151342280 intron variant C/A;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs16863352
rs16863352 		1.000 0.080 3 151386249 intron variant A/G snv 6.0E-02
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2046934
rs2046934 		0.882 0.200 3 151339854 intron variant G/A;C snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2046934
rs2046934 		0.882 0.200 3 151339854 intron variant G/A;C snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2046934
rs2046934 		0.882 0.200 3 151339854 intron variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3732759
rs3732759 		1.000 0.040 3 151357137 intron variant A/G snv 0.34
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3732765
rs3732765 		3 151372636 missense variant G/A snv 0.31 0.28
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs557043245
rs557043245 		3 151338482 missense variant G/A snv 4.0E-05 7.0E-06
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6801273
rs6801273 		1.000 0.080 3 151345042 intron variant T/C snv 0.42
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6809699
rs6809699 		1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs6809699
rs6809699 		1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs7428575
rs7428575 		1.000 0.040 3 151356835 intron variant T/G snv 0.34
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7637803
rs7637803 		0.882 0.160 3 151371438 intron variant C/G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7637803
rs7637803 		0.882 0.160 3 151371438 intron variant C/G;T snv
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
dbSNP: rs7637803
rs7637803 		0.882 0.160 3 151371438 intron variant C/G;T snv
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2019 2019